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Protein Page:
FANCC (human)

Overview
FANCC DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. Defects in FANCC are the cause of Fanconi anemia complementation group C (FANCC). A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 9q22.3
Cellular Component: nucleoplasm; cytoplasm; cytosol; nucleus
Molecular Function: protein binding
Biological Process: removal of superoxide radicals; nucleotide-excision repair; myeloid cell homeostasis; protein complex assembly; DNA repair; germ cell development
Reference #:  Q00597 (UniProtKB)
Alt. Names/Synonyms: bA80I15.1 (Fanconi anemia, complementation group C, protein); FA3; FAC; FACC; FANCC; Fanconi anemia group C protein; Fanconi anemia, complementation group C; FLJ14675; Protein FACC
Gene Symbols: FANCC
Molecular weight: 63,429 Da
Basal Isoelectric point: 5.77  Predict pI for various phosphorylation states
Select Structure to View Below

FANCC

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S5 ___MAQDSVDLSCDY
0 1 S57-p EALKEMDsNTVIERF
0 1 D84 NPFILAYDESQKILI
  mouse

► Hide Isoforms
 
S5-p ___MAQEsADLASDC
S57 EILKEMDSDAILERF
D84 NPLILAYDESQKIVI
  FANCC iso2  
S5 ___MAQESADLASDC
S57 EILKEMDSDAILERF
Y84-p NPLIFSIyESQKIVI
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